ClinVar Miner

List of variants reported as likely pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) rs1783602877 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NC_000001.11:g.153812287_153823987del
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) rs2043341481
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) rs2076994968
NM_001005273.3(CHD3):c.3514C>T (p.Arg1172Trp) rs867862540
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001007228.2(SPOP):c.216C>A (p.Asn72Lys)
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001031710.3(KLHL7):c.619-349A>G
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG rs1588339504
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
NM_001190737.2(NFIB):c.142C>T (p.Arg48Ter) rs2132704082
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001219.5(CALU):c.700C>T (p.Arg234Ter)
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro) rs2055064647
NM_001265.6(CDX2):c.940T>C (p.Ter314Arg) rs1593181774
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro) rs1948336129
NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer) rs1238870745
NM_001282116.2(RFX3):c.1473del (p.Phe492fs)
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu) rs2051764612
NM_001320.7(CSNK2B):c.72+1G>T
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs) rs2138750383
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) rs1555225835
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter) rs1057520149
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) rs2036511353
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)
NM_001378183.1(PIEZO2):c.3923+1G>T
NM_001379291.1(BRD4):c.2728dup (p.Gln910fs)
NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_002069.6(GNAI1):c.68_70del (p.Leu23del) rs1787388036
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002608.4(PDGFB):c.-318C>T
NM_002608.4(PDGFB):c.-373C>G
NM_003036.4(SKI):c.91T>G (p.Ser31Ala) rs1569656981
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003128.3(SPTBN1):c.3909C>G (p.Tyr1303Ter) rs748501800
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003482.4(KMT2D):c.10741-23_10741-2del
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003590.5(CUL3):c.827_828del (p.Ile276fs) rs1692821396
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln) rs1556894502
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del) rs2148721833
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)
NM_005560.6(LAMA5):c.5071G>T (p.Glu1691Ter)
NM_005618.4(DLL1):c.1574dup (p.Ala528fs) rs2114958269
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006186.4(NR4A2):c.1405del (p.Val469fs)
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006852.6(TLK2):c.1286+5G>A
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007347.5(AP4E1):c.150+593C>G
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) rs1645264815
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys) rs1564632292
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014989.7(RIMS1):c.1679-20550G>A
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015151.4(DIP2A):c.1429+2T>G
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
NM_016035.5(COQ4):c.230C>T (p.Thr77Ile)
NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs) rs2151976617
NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs) rs2151901930
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro) rs1389877870
NM_016604.4(KDM3B):c.3047-1G>A
NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr) rs2127701393
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_019066.5(MAGEL2):c.224del (p.Pro75fs) rs2140719261
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) rs1776322078
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021120.4(DLG3):c.1819+1del
NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_031466.8(TRAPPC9):c.-68C>T
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr) rs1829367042
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) rs2077275624
NM_133433.4(NIPBL):c.-457_-456delinsAT rs2149510283
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.5862+3487C>T rs2149710327
NM_133433.4(NIPBL):c.869-640G>C rs2149626924
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) rs2048401628
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) rs750080794
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_171998.4(RAB39B):c.559del (p.Glu187fs) rs2124126312
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182931.3(KMT2E):c.3476T>C (p.Leu1159Pro)
NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs) rs2140727029
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys) rs1698436913
NM_207037.2(TCF12):c.579+2T>C rs2151744236

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